Search Results - "DiBacco, Melissa L."

The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency by Tokatly Latzer, Itay, Bertoldi, Mariarita, DiBacco, Melissa L., Arning, Erland, Tsuboyama, Melissa, MacMullin, Paul, Sachee, Daniyal, Rotenberg, Alexander, Lee, Henry H. C., Aygun, Deniz, Opladen, Thomas, Jeltsch, Kathrin, García‐Cazorla, Àngels, Roullet, Jean‐Baptiste, Gibson, K. Michael, Pearl, Phillip L.

“…Objective Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ‐aminobutyrate (GABA)…”
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Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre–Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions by Ahmadi, Zohreh Ziatabar, DiBacco, Melissa L., Pearl, Phillip L.

“…This study reviews the fundamental roles of pre–supplementary motor area (SMA) and SMA-proper responsible for speech-motor functions and auditory perception in…”
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Sporadic and Periodic Interictal Discharges in Critically Ill Children: Seizure Associations and Time to Seizure Identification by Sansevere, Arnold J., DiBacco, Melissa L., Zhang, Bo, Akhondi-Asl, Alireza, Libenson, Mark H., Tasker, Robert C., Pearl, Phillip L.

“…We evaluated interictal discharges (IEDs) as a biomarker for the time to development of electrographic seizures (ES). Prospective observational study of 254…”
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Burden of illness in aromatic l‐amino acid decarboxylase deficiency by Melissa L. DiBacco, Jordan Hinahara, Thomas F. Goss, Phillip L. Pearl

“…Abstract Objectives Deficiency of aromatic l‐amino acid decarboxylase (AADC), a key enzyme in monoamine synthesis, is an ultrarare disorder of monoamine…”
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H C, Bertoldi, Mariarita, McGinty, Gabrielle E, DiBacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K Michael, Sahin, Mustafa, Pearl, Phillip L

“…Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston…”
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Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol by Sansevere, Arnold J., DiBacco, Melissa L., Pearl, Phillip L., Rotenberg, Alexander

“…Objective: To describe quantitative EEG (electroencephalography) suppression ratio in children with increased intracranial pressure comparing acute suppression…”
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Continuous Video Electroencephalography (EEG) for Event Characterization in Critically Ill Children by DiBacco, Melissa L., Cavan, Kelly, Sansevere, Arnold J.

“…Objective To determine features of paroxysmal events and background electroencephalographic (EEG) abnormalities associated with electroclinical seizures in…”
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Background EEG Suppression Ratio for Early Detection of Cerebral Injury in Pediatric Cardiac Arrest by Sansevere, Arnold J., Janatti, Ali, DiBacco, Melissa L., Cavan, Kelly, Rotenberg, Alexander

“…Background Our objective was to assess the utility of the 1-h suppression ratio (SR) as a biomarker of cerebral injury and neurologic prognosis after cardiac…”
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Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency by DiBacco, Melissa L., Pop, Ana, Salomons, Gajja S., Hanson, Ellen, Roullet, Jean-Baptiste, Gibson, K. Michael, Pearl, Phillip L.

“…OBJECTIVETo determine genotype–phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency. METHODSALDH5A1 variants were studied with…”
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Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study by Pearl, Phillip L., DiBacco, Melissa L., Papadelis, Christos, Opladen, Thomas, Hanson, Ellen, Roullet, Jean-Baptiste, Gibson, K. Michael

“…Objective: The SSADHD Natural History Study was initiated in 2019 to define the natural course and identify biomarkers correlating with severity. Methods: The…”
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EEG features of brain injury during extracorporeal membrane oxygenation in children by Sansevere, Arnold J., DiBacco, Melissa L., Akhondi-Asl, Alireza, LaRovere, Kerri, Loddenkemper, Tobias, Rivkin, Michael J., Thiagarajan, Ravi R., Pearl, Phillip L., Libenson, Mark H., Tasker, Robert C.

“…OBJECTIVETo examine EEG features of major pathophysiology in children undergoing extracorporeal membrane oxygenation (ECMO). METHODSThis was a single-center,…”
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Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency by Afacan, Onur, Yang, Edward, Lin, Alexander P., Coello, Eduardo, DiBacco, Melissa L., Pearl, Phillip L., Warfield, Simon K., Consortium, SSADH Deficiency Investigators

“…Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of γ-aminobutyric acid (GABA) degradation, resulting in elevations of…”
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Proceedings of the International SSADH Deficiency 2020 Conference by Pearl, Phillip L., DiBacco, Melissa L., Roullet, Jean-Baptiste, Gibson, K. Michael

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Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants by Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Cesaro, Samuele, DiBacco, Melissa L., Arning, Erland, Rotenberg, Alexander, Lee, Henry H. C., Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Bertoldi, Mariarita, Pearl, Phillip L.

“…To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of…”
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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency by Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, DiBacco, Melissa L., Elsea, Sarah H., García-Cazorla, Àngels, Gibson, K. Michael, Gropman, Andrea L., Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H.C., Malaspina, Patrizia, McConnell, Alice, Opladen, Thomas, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A., Roullet, Jean-Baptiste, Pearl, Phillip L.

“…Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of…”
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Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism by Bose, Mousumi, Roullet, Jean-Baptiste, Gibson, K. Michael, Rizzo, William B., Mansur, Hana M., McConnell, Alice, Hoffman, Carolyn A., DiBacco, Melissa L., Pearl, Phillip L.

“…Succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare disorder of GABA metabolism, presents with significant neurodevelopmental morbidity. Although…”
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GABA Transaminase Deficiency With Survival Into Adulthood by Hegde, Anaita U., Karnavat, Purva K., Vyas, R., DiBacco, Melissa L., Grant, P. Ellen, Pearl, Phillip L.

“…γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic…”
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Age‐related phenotype and biomarker changes in SSADH deficiency by DiBacco, Melissa L., Roullet, Jean‐Baptiste, Kapur, Kush, Brown, Madalyn N., Walters, Dana C., Gibson, K. Michael, Pearl, Phillip L.

“…Objective Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a disorder of elevated gamma‐amino butyric acid (GABA) and gamma hydroxybutyric acid (GHB)…”
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Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism by Papadelis, Christos, Ntolkeras, Georgios, Tokatly Latzer, Itay, DiBacco, Melissa L, Afacan, Onur, Warfield, Simon, Shi, Xutong, Roullet, Jean-Baptiste, Gibson, K Michael, Pearl, Phillip L

“…Abstract Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessively inherited metabolic disorder of γ-aminobutyric acid catabolism…”
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T64. Continuous EEG monitoring in extracorporeal membrane oxygenation in the pediatric and neonatal intensive care unit by Sansevere, Arnold J., DiBacco, Melissa L.

“…Electrographic seizures are common in patients on ECMO. The impact of EEG seizures on outcome is unclear. We aim to describe the main clinical and…”
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